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1385 news items
Research
A retrospective study from Nantes University Hospital characterizes severe cardiac involvement in women transmitting DMD
On 04/06/2021
A team from Nantes University Hospital is launching a retrospective study, led by Prof. Sandra Mercier, geneticist, to describe the forms of severe heart failure…
Research
A good record for the longest follow-up to date of Zolgensma in SMA
On 03/06/2021
After obtaining positive results on the motor development of 15 infants with type I SMA, aged less than 6 months and symptomatic during the first…
Research
A single injection of a promising double gene therapy in a OPMD mouse model
On 03/06/2021
Oculopharyngeal muscular dystrophy (or OPMD) is a relatively rare type of muscular dystrophy that tends to affect and older population. This condition is transmitted in…
Research
DMD : a robust production of dystrophin, 3 months after administration of SRP-9001 in 11 patients (phase I clinical trial)
On 03/06/2021
SRP-9001 (rAAVrh74.MHCK7.micro-dystrophin) developed in Duchenne muscular dystrophy (DMD) by Sarepta Therapeutics is a gene therapy product combining a micro-dystrophin gene and an adeno-associated virus (AAV).…
Research
SMA: results of a large-scale survey of newborn screening around the world
On 31/05/2021
The question of neonatal screening for SMA does rise more and more since the marketing of three disease-modifying therapies, Spinraza®, Zolgensma® and Evrysdi®, which efficacy…
Research
FSHD: a new european network for clinical trials
On 31/05/2021
On the initiative of FSHD Europe association, in which the AFM-Telethon is involved, a European network of clinical trials in FSH has just been created…
Research
Motor neurons and myotubes interact via secreted endogenous neuronal and muscle growth factors
On 25/05/2021
Neuromuscular junction (NMJ) research is essential to advance the understanding of neuromuscular pathophysiology and the development of new therapies for diseases associated with NMJ dysfunction.…
Research
Is the risk-taking inherent in DMD gene therapy acceptable to patients?
On 25/05/2021
Duchenne muscular dystrophy (DMD), the most common form of myopathy in children, is currently experiencing major developments in innovative therapies. This neuromuscular disease leading to…
Research
A heterozygous variant of the calpain 3 gene causing camptocorm syndrome
On 21/05/2021
Calpainopathies are a subgroup of limb girdle muscular dystrophies whose symptoms usually appear in early adolescence. In the vast majority of cases, this neuromuscular disease,…
Research
Reprogrammed pluripotent stem cells: formidable tools to test innovative neuromuscular disease therapies
On 20/05/2021
In the field of innovative therapies for neuromuscular diseases, having access to a model, whether cell or animal, for a given disease is a major…
Research
Type II and III SMA: positive effects of nusinersen, greater impact on motor function than on respiratory function
On 19/05/2021
Of the many forms of spinal muscular atrophy (SMA), the form causing predominately proximal muscle deficit and associated with a lack of the SMN protein…
Research
Using gene therapy to treat CMT 1A through RNA interference
On 14/05/2021
Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited sensory-motor neuropathy linked to the duplication of the PMP22 gene. Excessive production of PMP22 by Schwann cells…
Research
A low level of anti-AAV9 antibodies makes most very young patients with SMA eligible for Zolgensma
On 10/05/2021
Pre-existing immunity against adeno-associated viruses (AAVs), which are naturally very widespread, is one of the obstacles to gene therapy using such a vector. Zolgensma (onasemnogene…
Research
Treating cardiomyopathy earlier with angiotensin converting enzyme inhibitors preserves heart function in BMD
On 10/05/2021
Becker muscular dystrophy (BMD) is the result of a partial dystrophin deficiency. Approximately 40% of adults with BMD present dilated cardiomyopathy, including 15% of under…
Research
The phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy
On 07/05/2021
Dysferlinopathy encompasses several clinical entities, having in common a deficit in dysferlin, a protein involved in muscle fibre membrane repair mechanisms. Initially reduced simply to…
Research
New study supports leuprorelin in Kennedy disease
On 04/05/2021
Kennedy’s disease is a relatively slow-growing motor neuron disease. Among the various clinical signs, swallowing disorders strongly affect the quality of life of patients. Leuprorelin,…
Research
At AAN Congress, nipocalimab demonstrates efficacy and good tolerance in generalized myasthenia gravis
On 03/05/2021
Neonatal Fc receptors (FcRn) prevent the degradation of immunoglobulins G (IgG), promoting their recycling. Nipocalimab is a monoclonal antibody directed against FcRn giving hope for…
Research
Nutritional ketosis before exercise shows benefits in type III glycogenosis with major muscle damage
On 29/04/2021
Cori-Forbes disease or type III glycogenosis is an inherited disease caused by a deficiency of the debranching enzyme, causing a defect in the production of…
Research
A new functional scale adapted to LGMD, in particular to dysferlinopathies
On 29/04/2021
Functional scales are very useful in neuromuscular diseases (NMD), for monitoring NMD patients as well as in therapeutic trials where they can be used as…
Research
Oculopharyngodistal myopathy: already 3 genes identified
On 22/04/2021
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are due to a a repeat expansion of triplets. OPDM is much rarer than DMOP and…